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While most CSS <jats:italic>ARID1B<\/jats:italic> aberrations introduce frameshifts or stop codons, the functional consequence of missense mutations found in <jats:italic>ARID1B<\/jats:italic> is unclear. We here perform saturated mutagenesis screens on ARID1B and demonstrate that protein destabilization is the main mechanism associated with pathogenic missense mutations in patients with Coffin\u2013Siris Syndrome.<\/jats:p>","DOI":"10.1038\/s41594-024-01229-2","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T11:02:20Z","timestamp":1707735740000},"page":"1018-1022","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Protein destabilization underlies pathogenic missense mutations in ARID1B"],"prefix":"10.1038","volume":"31","author":[{"given":"Fanny","family":"Mermet-Meillon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuele","family":"Mercan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Bauer-Probst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Allard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melusine","family":"Bleu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Calkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Knehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6074-5087","authenticated-orcid":false,"given":"Marc","family":"Altorfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7783-7675","authenticated-orcid":false,"given":"Ulrike","family":"Naumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7081-2598","authenticated-orcid":false,"given":"Kathleen","family":"Sprouffske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Barys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8331-4344","authenticated-orcid":false,"given":"Fabian","family":"Sesterhenn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9401-060X","authenticated-orcid":false,"given":"Giorgio G.","family":"Galli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,12]]},"reference":[{"key":"1229_CR1","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/ng.2219","volume":"44","author":"Y Tsurusaki","year":"2012","unstructured":"Tsurusaki, Y. et al. 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